Technologies collectively called omics enable simultaneous measurement of an enormous number of biomolecules; for example, genomics investigates thousands of DNA sequences, and proteomics examines large numbers of proteins. Scientists are using these technologies to develop innovative tests to detect disease and to predict a patient's likelihood of responding to specific drugs. Following a recent case involving premature use of omics-based tests in cancer clinical trials at Duke University, the NCI requested that the IOM establish a committee to recommend ways to strengthen omics-based test development and evaluation. This report identifies best practices to enhance development, evaluation, and translation of omics-based tests while simultaneously reinforcing steps to ensure that these tests are appropriately assessed for scientific validity before they are used to guide patient treatment in clinical trials.

Contents

• COMMITTEE ON THE REVIEW OF OMICS-BASED TESTS FOR PREDICTING PATIENT OUTCOMES IN CLINICAL TRIALS
• Reviewers
• Acknowledgments
• Summary
  • STUDY SCOPE
  • FINDINGS, CONCLUSIONS, AND RECOMMENDATIONS
  • REFERENCES
• 1. Introduction
  • ORIGIN OF THE TASK
  • COMMITTEE APPOINTMENT AND CHARGE
  • ENGAGEMENT OF STAKEHOLDERS AND IMPLEMENTATION OF THE RECOMMENDATIONS
  • ORGANIZATION OF THE REPORT
  • REFERENCES
• 2. Omics-Based Clinical Discovery: Science, Technology, and Applications
  • TYPES OF OMICS DATA
  • EMERGING OMICS TECHNOLOGIES AND DATA ANALYSIS TECHNIQUES
  • STATISTICS AND BIOINFORMATICS DEVELOPMENT OF OMICS-BASED TESTS
  • Step 4: Release of Data, Code, and the Fully Specified Computational Procedures to the Scientific Community
  • COMPLETION OF THE DISCOVERY PHASE OF OMICS-BASED TEST DEVELOPMENT
  • SUMMARY AND RECOMMENDATION
  • REFERENCES
• 3. Best Practices for Omics-Based Test Validation Prior to Use for Patient Management Decisions in a Clinical Trial Setting
  • BACKGROUND
  • TEST VALIDATION PHASE
  • PREPARATION FOR INVESTIGATIONAL USE OF THE VALIDATED TEST
  • FUNDING FOR VALIDATION OF A CANDIDATE OMICS-BASED TEST IN A CLIA-CERTIFIED CLINICAL LABORATORY
  • SUMMARY AND RECOMMENDATION
  • REFERENCES
• 4. Evaluation of Omics-Based Tests for Clinical Utility and Use
  • BACKGROUND
  • EVALUATION FOR CLINICAL UTILITY AND USE STAGE
  • SUMMARY AND RECOMMENDATION
  • REFERENCES
• 5. Responsible Parties
  • INTRAINSTITUTIONAL PARTIES
  • FUNDERS
  • FDA
  • JOURNALS
  • SUMMARY AND RECOMMENDATIONS
  • REFERENCES
• 6. Lessons from the Case Studies
  • METHODS
  • LESSONS LEARNED FROM THE CASE STUDIES
  • CONCLUDING REMARKS
  • REFERENCES
• Appendix A Case Studies
• Appendix B Gene Expression–Based Tests Developed at Duke University and Used in Clinical Trials
• Appendix C Introduction to Biomarkers
• Appendix D Reporting Guidelines
• Appendix E Committee Member and Staff Biographies
• Appendix F Information Gathering Sessions and Speakers
• Acronyms and Abbreviations
• Glossary

This study was supported by Contract Nos. HHSN261200900003C (National Cancer Institute); HHSF223201010692P and HHSF22301018T (Food and Drug Administration); and 200-2011-38807 and 200-2005-13434 (Centers for Disease Control and Prevention). This study was also supported by the U.S. Department of Veterans Affairs, the American Society for Clinical Pathology, and the College of American Pathologists. Any opinions, findings, conclusions, or recommendations expressed in this publication are those of the author(s) and do not necessarily reflect the view of the organizations or agencies that provided support for this project.

Suggested citation:

IOM (Institute of Medicine). 2012. Evolution of Translational Omics: Lessons Learned and the Path Forward. Washington, DC: The National Academies Press.

NOTICE: The project that is the subject of this report was approved by the Governing Board of the National Research Council, whose members are drawn from the councils of the National Academy of Sciences, the National Academy of Engineering, and the Institute of Medicine.